Publications

Publications

Publications

Enroll-HD is both a worldwide observational study and a clinical research platform supporting various studies and trials, with an overall objective to accelerate HD therapeutic development. Clinical data and biosamples collected in Enroll-HD and other HD studies are made available through the Enroll-HD platform to any verified researcher per the Clinical Data and Biosample Access Policy to extract as much knowledge as possible. As ever, we are enormously grateful to the thousands of participants and families around the world who selflessly give their time and energy, as well as to the dedicated staff at the clinical sites who make Enroll-HD possible.

When publishing their findings, researchers using these data and biosamples are expected to adhere to the Enroll-HD publication policy, including full acknowledgement of the individuals who contributed to the collection of the Enroll-HD data. The publications hosted here have all used the Enroll-HD datasets that are periodically made available and illustrate some of the areas of HD research that Enroll-HD is directly influencing.

If your publication that uses Enroll-HD data is not included in this gallery, or you know of a publication that should be included, then please let us know at info@chdifoundation.org. In the near future we will also be including publications that use other HD study datasets available through the Enroll-HD platform, please let us know if this applies to a publication of yours.

Authors

Title

Journal

Pfalzer AC, Shiino S, Silverman J, Codreanu SG, Sherrod SD, McLean JA, Claassen DO

Alterations in cerebrospinal fluid urea occur in late manifest Huntington's disease
J Huntingtons Dis
Mar 02, 2024
PMID: 38461512

Gaudet ID, Xu H, Gordon E, Cannestro GA, Lu ML, Wei J

Elevated SLC7A2 expression is associated with an abnormal neuroinflammatory response and nitrosative stress in Huntington's disease
J Neuroinflammation
Feb 28, 2024
21 (1) :59
PMID: 38419038
PMCID: 10900710

Sun Z, Ware J, Dey S, Eyigoz E, Sathe S, Sampaio C, Hu J

Large-scale screening of clinical assessments to distinguish between states in the Integrated HD Progression Model (IHDPM)
Front Aging Neurosci
Feb 13, 2024
16 :1320755
PMID: 38414632
PMCID: 10896990

Nopoulos S, Reasoner EE, Ogilvie AC, Killoran A, Schultz JL

Evaluating motor progression of juvenile-onset Huntington's Disease: An Enroll-HD analysis
Parkinsonism Relat Disord
Feb 01, 2024
119 (105954)
PMID: 38142629

Sprenger GP, van Zwet EW, Bakels HS, Achterberg WP, Roos RA, de Bot ST

Prevalence and burden of pain across the entire spectrum of Huntington's disease
J Neurol Neurosurg Psychiatry
Jan 30, 2024
PMID: 38290837

Migliore S, Bianco SD, Scocchia M, Maffi S, Busi LC, Ceccarelli C, Curcio G, Mazza T, Squitieri F

Prodromal cognitive changes as a prognostic indicator of forthcoming Huntington's disease severity: A retrospective longitudinal study
Mov Disord Clin Pract
Jan 24, 2024
PMID: 38264920

Achenbach J, Stodt B, Saft C

Factors influencing the total functional capacity score as a critical endpoint in Huntington's disease research
Biomedicines
Dec 17, 2023
11 (12) :3336
PMID: 38137557
PMCID: 10741795

Jeyakumar N, Hilmer SN, Teixeira-Pinto A, Loy CT

Frailty and associated environmental factors only have small effects on age of onset in Huntington's disease
J Huntingtons Dis
Dec 15, 2023
12 (4) :355-361
PMID: 38007671

Mendizabal A, Singh AP, Perlman S, Brown A, Bordelon Y

Disparities in Huntington disease severity: Analysis using the ENROLL-HD dataset
Neurol Clin Pract
Dec 01, 2023
13 (6) :e200200
PMID: 37795504

Langbehn DR, Sathe SS, Loy C, Sampaio C, Mccusker EA

A phenotypic atlas for Huntington disease based on data from the Enroll-HD cohort study
Neurol Genet
Dec 01, 2023
9 (6) :e200111
PMID: 38035176
PMCID: 10684052

Horta-Barba A, Martinez-Horta S, Pérez-Pérez J, Puig-Davi A, de Lucia N, de Michele G, Salvatore E, Kehrer S, Priller J, Migliore S, Squitieri F, Castaldo A, Mariotti C, Mañanes V, Lopez-Sendon JL, …Cognitive Phenotype Working Group of the European Huntington’s Disease Network

Measuring cognitive impairment and monitoring cognitive decline in Huntington's disease: a comparison of assessment instruments
J Neurol
Nov 01, 2023
270 (11) :5408-5417
PMID: 37462754
PMCID: 10576674

Buchanan DA, Brown AE, Osigwe EC, Pfalzer AC, Mann LG, Yan Y, Kang H, Claassen DO

Racial differences in the presentation and progression of Huntington's disease
Mov Disord
Oct 01, 2023
38 (10) :1945-1949
PMID: 37559498

Mühlbäck A, Mana J, Wallner M, Frank W, Lindenberg KS, Hoffmann R, Klempířová O, Klempíř J, Landwehrmeyer GB, Bezdicek O, REGISTRY investigators of the European Huntington’s Disease Network, the Enroll-HD investigators

Establishing normative data for the evaluation of cognitive performance in Huntington's disease considering the impact of gender, age, language, and education
J Neurol
Oct 01, 2023
270 (10) :4903-4913
PMID: 37347292
PMCID: 10511566

Ouwerkerk J, Feleus S, van der Zwaan KF, Li Y, Roos M, van Roon-Mom WMC, de Bot ST, Wolstencroft KJ, Mina E

Machine learning in Huntington's disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction
Orphanet J Rare Dis
Jul 27, 2023
18 (1) :218
PMID: 37501188

Sierra LA, Ullman CJ, Baselga-Garriga C, Pandeya SR, Frank SA, Laganiere S

Prevalence of neurocognitive disorder in Huntington's disease using the Enroll-HD dataset
Front Neurol
Jul 14, 2023
14 :1198145
PMID: 37521291
PMCID: 10375015

Sokol LL, Nance M, Kluger BM, Yeh C, Paulsen JS, Smith AK, Bega D

Factors associated with the place of death in Huntington disease: Analysis of Enroll-HD
J Palliat Med
Jul 01, 2023
26 (7) :915-921
PMID: 36706436
PMCID: 10316529

Martínez-Horta S, Perez-Perez J, Oltra-Cucarella J, Sampedro F, Horta-Barba A, Puig-Davi A, Pagonabarraga J, Kulisevsky J

Divergent cognitive trajectories in early stage Huntington's disease: A 3-year longitudinal study
Eur J Neurol
Jul 01, 2023
30 (7) :1871-1879
PMID: 36994811

Heinzmann A, Sayah S, Lejeune FX, Hahn V, Teichmann M, Monin ML, Marchionni E, Gérard F, Charles P, Pariente J, Durr A

Huntington's disease with small CAG repeat expansions
Mov Disord
Jul 01, 2023
38 (7) :1294-1306
PMID: 37288993

Hamilton JL, Mills JA, Stebbins GT, Long JD, Fuller RLM, Sathe S, Roché M, Sampaio C

Defining clinical meaningfulness in Huntington's disease
Mov Disord
Jun 02, 2023
38 (6) :1036-1043
PMID: 37147862

Ogilvie AC, Schultz JL

Memantine use and cognitive decline in Huntington's disease: An Enroll-HD study
Mov Disord Clin Pract
May 16, 2023
10 (7) :1120-1125
PMID: 37476323
PMCID: 10354618

Long JD, Gantman EC, Mills JA, Vaidya JG, Mansbach A, Tabrizi SJ, Sampaio C

Applying the Huntington's Disease Integrated Staging System (HD-ISS) to observational studies
J Huntingtons Dis
May 02, 2023
12 (1) :57-69
PMID: 37092230

Gunn S, Dale M, Ovaska-Stafford N, Maltby J

Mental health symptoms among those affected by Huntington's disease: A cross-sectional study
Brain Behav
Apr 01, 2023
13 (4) :e2954
PMID: 36880126
PMCID: 10097147

Ruiz de Sabando A, Urrutia Lafuente E, Galbete A, Ciosi M, García Amigot F, García Solaesa V, Spanish HD Collaborative group, Monckton DG, Ramos-Arroyo MA

Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease
Hum Mol Genet
Mar 06, 2023
32 (6) :897-906
PMID: 36130218
PMCID: 9990985

Lunven M, Hernandez Dominguez K, Youssov K, Hamet Bagnou J, Fliss R, Vandendriessche H, Bapst B, Morgado G, Remy P, Schubert R, Reilmann R, Busse M, Craufurd D, Massart R, Rosser A, Bachoud-Lévi AC

A new approach to digitized cognitive monitoring: validity of the SelfCog in Huntington's disease
Brain Commun
Mar 06, 2023
5 (2) :fcad043
PMID: 36938527
PMCID: 10018460

Stoebner ZA, Hett K, Lyu I, Johnson H, Paulsen JS, Long JD, Oguz I

Comprehensive shape analysis of the cortex in Huntington's disease
Hum Brain Mapp
Mar 01, 2023
44 (4) :1417-1431
PMID: 36409662
PMCID: 9921229

Pfalzer AC, Watson KH, Ciriegio AE, Hale L, Diehl S, McDonell KE, Vnencak-Jones C, Huitz E, Snow A, Roth MC, Guthrie CS, Riordan H, Long JD, Compas BE, Claassen DO

Impairments to executive function in emerging adults with Huntington disease
J Neurol Neurosurg Psychiatry
Feb 01, 2023
94 (2) :130-135
PMID: 36450478

Ko J, Furby H, Ma X, Long JD, Lu XY, Slowiejko D, Gandhy R

Clustering and prediction of disease progression trajectories in Huntington's disease: An analysis of Enroll-HD data using a machine learning approach
Front Neurol
Jan 30, 2023
13 :1034269
PMID: 36793800
PMCID: 9923354

Fang L, Monteys AM, Dürr A, Keiser M, Cheng C, Harapanahalli A, Gonzalez-Alegre P, Davidson BL, Wang K

Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing
HGG Adv
Jan 12, 2023
4 (1) :100146
PMID: 36262216
PMCID: 9574884

Ruiz-Idiago J, Pomarol-Clotet E, Salvador R

Longitudinal analysis of neuropsychiatric symptoms in a large cohort of early-moderate manifest Huntington's disease patients
Parkinsonism Relat Disord
Jan 01, 2023
106 :105228
PMID: 36470173

Andriessen RL, Oosterloo M, Hollands A, Linden DEJ, de Greef BTA, Leentjens AFG

Psychotropic medication use in Huntington's disease: A retrospective cohort study
Parkinsonism Relat Disord
Dec 01, 2022
105 :69-74
PMID: 36379156

Di Tella S, Lo Monaco MR, Petracca M, Zinzi P, Solito M, Piano C, Calabresi P, Silveri MC, Bentivoglio AR

Beyond the CAG triplet number: exploring potential predictors of delayed age of onset in Huntington's disease
J Neurol
Dec 01, 2022
269 (12) :6634-6640
PMID: 35915275

McLauchlan DJ, Lancaster T, Craufurd D, Linden DEJ, Rosser AE

Different depression: motivational anhedonia governs antidepressant efficacy in Huntington's disease
Brain Commun
Nov 09, 2022
4 (6) :fcac278
PMID: 36440100
PMCID: 9683390

Koval I, Dighiero-Brecht T, Tobin AJ, Tabrizi SJ, Scahill RI, Tezenas du Montcel S, Durrleman S, Durr A

Forecasting individual progression trajectories in Huntington disease enables more powered clinical trials
Sci Rep
Nov 07, 2022
12 (1) :18928
PMID: 36344508

Scarabino D, Veneziano L, Mantuano E, Arisi I, Fiore A, Frontali M, Corbo RM

Leukocyte telomere length as potential biomarker of HD progression: A follow-up study
Int J Mol Sci
Nov 03, 2022
23 (21) :13449
PMID: 36362235

Ogilvie AC, Carnahan RM, Chrischilles EA, Schultz JL

The effects of antidepressants on depressive symptoms in manifest Huntington's disease
J Psychosom Res
Nov 01, 2022
162 :111023
PMID: 36063627

Achenbach J, Faissner S, Saft C

Resurrection of sildenafil: potential for Huntington's Disease, too?
J Neurol
Sep 01, 2022
269 (9) :5144-5150
PMID: 35633374
PMCID: 9363275

Squitieri F, Monti L, Graziola F, Colafati GS, Sabatini U

Early liver steatosis in children with pediatric Huntington disease and highly expanded CAG mutations
Parkinsonism Relat Disord
Aug 28, 2022
103 :102-104
PMID: 36096016

Achenbach J, Saft C, Faissner S, Ellrichmann G

Positive effect of immunomodulatory therapies on disease progression in Huntington's disease? Data from a real-world cohort
Ther Adv Neurol Disord
Jul 27, 2022
15
PMID: 35899100
PMCID: 9310279

Tabrizi SJ, Schobel S, Gantman EC, Mansbach A, Borowsky B, Konstantinova P, Mestre TA, Panagoulias J, Ross CA, Zauderer M, Mullin AP, Romero K, Sivakumaran S, Turner EC, Long JD, Sampaio C, Huntington’s Disease Regulatory Science Consortium (HD-RSC)

A biological classification of Huntington's disease: the Integrated Staging System
Lancet Neurol
Jul 01, 2022
21 (7) :632-644
PMID: 35716693

Petracca M, Di Tella S, Solito M, Zinzi P, Lo Monaco MR, Di Lazzaro G, Calabresi P, Silveri MC, Bentivoglio AR

Clinical and genetic characteristics of late-onset Huntington's disease in a large European cohort
Eur J Neurol
Jul 01, 2022
29 (7) :1940-1951
PMID: 35357736
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